707272006: Autosomal recessive dyskeratosis congenita (disorder)

SNOMED CT Concept\constatation clinique\...

\Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita

\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Skin lesion\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita

\Disease\Genetic disease\maladie héréditaire\syndrome familial avec prédisposition aux cancers (trouble)\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive dyskeratosis congenita
\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\Disease\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\Disease\trouble du développement\Developmental hereditary disorder\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\Disease\trouble du développement\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3029600013 Autosomal recessive dyskeratosis congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3029603010 Autosomal recessive dyskeratosis congenita (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive dyskeratosis congenita	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal recessive dyskeratosis congenita	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Autosomal recessive dyskeratosis congenita	localisation d'une constatation (attribut)	Ectoderm structure	true	Inferred relationship	Some	2
Autosomal recessive dyskeratosis congenita	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	2
Autosomal recessive dyskeratosis congenita	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Autosomal recessive dyskeratosis congenita	est un(e) (attribut)	Dyskeratosis congenita	true	Inferred relationship	Some
Autosomal recessive dyskeratosis congenita	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive dyskeratosis congenita	morphologie associée (attribut)	Dyskeratosis	false	Inferred relationship	Some	2
Autosomal recessive dyskeratosis congenita	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Autosomal recessive dyskeratosis congenita	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	3
Autosomal recessive dyskeratosis congenita	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Autosomal recessive dyskeratosis congenita	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	3
Autosomal recessive dyskeratosis congenita	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Autosomal recessive dyskeratosis congenita	morphologie associée (attribut)	Dyskeratosis	true	Inferred relationship	Some	1
Autosomal recessive dyskeratosis congenita	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3029600013	Autosomal recessive dyskeratosis congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3029603010	Autosomal recessive dyskeratosis congenita (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core